Canonical Allele Identifier: CA394307474
Community Standard Title: NM_000548.5(TSC2):c.4720T>C (p.Phe1574Leu)
Gene: TSC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2086250T>C , CM000678.2:g.2086250T>C GRCh38
NC_000016.9:g.2136251T>C , CM000678.1:g.2136251T>C GRCh37
NC_000016.8:g.2076252T>C NCBI36
NG_005895.1:g.41945T>C , LRG_487:g.41945T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000548.5:c.4720T>C MANE Select NP_000539.2:p.Phe1574Leu
ENST00000219476.9:c.4720T>C MANE Select ENSP00000219476.3:p.Phe1574Leu
NM_000548.3:c.4720T>C , LRG_487t1:c.4720T>C NP_000539.2:p.Phe1574Leu
NM_000548.4:c.4720T>C NP_000539.2:p.Phe1574Leu
NM_001077183.1:c.4519T>C NP_001070651.1:p.Phe1507Leu
NM_001077183.2:c.4519T>C NP_001070651.1:p.Phe1507Leu
NM_001077183.3:c.4519T>C NP_001070651.1:p.Phe1507Leu
NM_001114382.1:c.4651T>C NP_001107854.1:p.Phe1551Leu
NM_001114382.2:c.4651T>C NP_001107854.1:p.Phe1551Leu
NM_001114382.3:c.4651T>C NP_001107854.1:p.Phe1551Leu
NM_001318827.1:c.4411T>C NP_001305756.1:p.Phe1471Leu
NM_001318827.2:c.4411T>C NP_001305756.1:p.Phe1471Leu
NM_001318829.1:c.4375T>C NP_001305758.1:p.Phe1459Leu
NM_001318829.2:c.4375T>C NP_001305758.1:p.Phe1459Leu
NM_001318831.1:c.3988T>C NP_001305760.1:p.Phe1330Leu
NM_001318831.2:c.3988T>C NP_001305760.1:p.Phe1330Leu
NM_001318832.1:c.4552T>C NP_001305761.1:p.Phe1518Leu
NM_001318832.2:c.4552T>C NP_001305761.1:p.Phe1518Leu
NM_001363528.1:c.4522T>C NP_001350457.1:p.Phe1508Leu
NM_001363528.2:c.4522T>C NP_001350457.1:p.Phe1508Leu
NM_001370404.1:c.4588T>C NP_001357333.1:p.Phe1530Leu
NM_001370405.1:c.4591T>C NP_001357334.1:p.Phe1531Leu
NM_021055.2:c.4591T>C NP_066399.2:p.Phe1531Leu
NM_021055.3:c.4591T>C NP_066399.2:p.Phe1531Leu
ENST00000219476.7:c.4720T>C ENSP00000219476.3:p.Phe1574Leu
ENST00000350773.8:c.4651T>C ENSP00000344383.4:p.Phe1551Leu
ENST00000350773.9:c.4651T>C ENSP00000344383.4:p.Phe1551Leu
ENST00000382538.10:c.4375T>C ENSP00000371978.6:p.Phe1459Leu
ENST00000401874.6:c.4519T>C ENSP00000384468.2:p.Phe1507Leu
ENST00000401874.7:c.4519T>C ENSP00000384468.2:p.Phe1507Leu
ENST00000439117.6:c.*3887T>C ENSP00000406980.2:n.*3887T>C
ENST00000439673.6:c.4411T>C ENSP00000399232.2:p.Phe1471Leu
ENST00000497886.5:n.2478T>C
ENST00000568454.5:c.4552T>C ENSP00000454487.1:p.Phe1518Leu
ENST00000568454.6:c.4552T>C ENSP00000454487.1:p.Phe1518Leu
ENST00000568566.6:c.*3069T>C ENSP00000455997.2:n.*3069T>C
ENST00000569110.1:c.902T>C
ENST00000569110.2:c.943T>C
ENST00000569930.1:n.1835T>C
ENST00000569930.2:n.2602T>C
ENST00000642206.2:c.4567T>C ENSP00000495146.2:p.Phe1523Leu
ENST00000642365.1:c.3374T>C
ENST00000642365.2:c.4717T>C ENSP00000495459.2:p.Phe1573Leu
ENST00000642561.1:c.4591T>C ENSP00000495099.1:p.Phe1531Leu
ENST00000642728.1:n.902T>C
ENST00000642791.1:n.317T>C
ENST00000642797.1:c.4522T>C ENSP00000493846.1:p.Phe1508Leu
ENST00000642936.1:c.4588T>C ENSP00000494514.1:p.Phe1530Leu
ENST00000643088.1:c.4513T>C ENSP00000494747.1:p.Phe1505Leu
ENST00000643177.1:n.734T>C
ENST00000643426.1:n.2368T>C
ENST00000643946.1:c.4645T>C ENSP00000495927.1:p.Phe1549Leu
ENST00000644043.1:c.4591T>C ENSP00000496262.1:p.Phe1531Leu
ENST00000644278.1:n.202T>C
ENST00000644329.1:c.4519T>C ENSP00000496611.1:p.Phe1507Leu
ENST00000644335.1:c.4516T>C ENSP00000496317.1:p.Phe1506Leu
ENST00000644399.1:c.4641T>C
ENST00000644417.2:c.*5233T>C ENSP00000493912.2:n.*5233T>C
ENST00000645024.1:n.2804T>C
ENST00000646388.1:c.4714T>C ENSP00000495921.1:p.Phe1572Leu
ENST00000646464.2:c.*7469T>C ENSP00000496610.2:n.*7469T>C
ENST00000646634.1:n.3535T>C
ENST00000646674.1:n.1972T>C
ENST00000647042.1:n.1943T>C
ENST00000647180.1:n.1833T>C
XM_005255529.3:c.4591T>C XP_005255586.2:p.Phe1531Leu
XM_005255531.3:c.4522T>C XP_005255588.2:p.Phe1508Leu
XM_005255531.4:c.4522T>C XP_005255588.2:p.Phe1508Leu
XM_011522636.1:c.4774T>C XP_011520938.1:p.Phe1592Leu
XM_011522636.2:c.4774T>C XP_011520938.1:p.Phe1592Leu
XM_011522637.1:c.4771T>C XP_011520939.1:p.Phe1591Leu
XM_011522637.2:c.4771T>C XP_011520939.1:p.Phe1591Leu
XM_011522638.1:c.4663T>C XP_011520940.1:p.Phe1555Leu
XM_011522638.2:c.4936T>C XP_011520940.2:p.Phe1646Leu
XM_011522639.1:c.4645T>C XP_011520941.1:p.Phe1549Leu
XM_011522639.2:c.4645T>C XP_011520941.1:p.Phe1549Leu
XM_011522640.1:c.4642T>C XP_011520942.1:p.Phe1548Leu
XM_011522640.2:c.4642T>C XP_011520942.1:p.Phe1548Leu
XM_011522641.1:c.4411T>C XP_011520943.1:p.Phe1471Leu
XM_017023615.1:c.4717T>C XP_016879104.1:p.Phe1573Leu
XM_017023616.1:c.4588T>C XP_016879105.1:p.Phe1530Leu
XM_017023617.1:c.4684T>C XP_016879106.1:p.Phe1562Leu
XM_017023618.1:c.3430T>C XP_016879107.1:p.Phe1144Leu
XM_024450413.1:c.4519T>C XP_024306181.1:p.Phe1507Leu